Concept
Somatic (biology)
Related publications (20)
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping
Background: Cancer genome sequencing enables accurate classification of tumours and tumour subtypes. However, prediction performance is still limited using exome-only sequencing and for tumour types with low somatic mutation burden such as many paediatri ...
2023Reanalysis of mtDNA mutations of human primordial germ cells (PGCs) reveals NUMT contamination and suggests that selection in PGCs may be positive
The resilience of the mitochondrial genome (mtDNA) to a high mutational pressure depends, in part, on negative purifying selection in the germline. A paradigm in the field has been that such selection, at least in part, takes place in primordial germ cells ...
London2023Diverse cell-specific patterns of alternative polyadenylation in Drosophila
Most genes in higher eukaryotes express isoforms with distinct 3' untranslated regions (3' UTRs), generated by alternative polyadenylation (APA). Since 3' UTRs are predominant locations of post-transcriptional regulation, APA can render such programs condi ...
NATURE PORTFOLIO2022Integrative transcriptome analyses of Transposable Elements (TEs) and genes contribute to a better understanding of colorectal cancer
Cancer is the second leading cause of death worldwide. Cancer develops through multiple hallmark functions including apoptosis evasion, unlimited replicative potential, metastasis, and immune avoidance. Over the past few decades, researchers have reported ...
EPFL2022Comparative Transcriptomics Analyses across Species, Organs, and Developmental Stages Reveal Functionally Constrained lncRNAs
Fabrice Daniel Darbellay, Anamaria Necsulea
The functionality of long noncoding RNAs (lncRNAs) is disputed. In general, lncRNAs are under weak selective pressures, suggesting that the majority of lncRNAs may be nonfunctional. However, although some surveys showed negligible phenotypic effects upon l ...
OXFORD UNIV PRESS2020Tissue- and sex-specific small RNAomes reveal sex differences in response to the environment
Pierre Gönczy, Alexandra Bezler, Frédéric Schütz, Laurent Keller, Raffaella Conconi
RNA interference (RNAi) related pathways are essential for germline development and fertility in metazoa and can contribute to inter- and trans-generational inheritance. In the nematode Caenorhabditis elegans, environmental double-stranded RNA provided by ...
PUBLIC LIBRARY SCIENCE2019The double-edged toxins
Many insect species are associated with endosymbiotic bacteria which have the particularity of living within host tissues. Endosymbionts benefit from this stable and nutritious environment, while providing ecological advantages to their host, such as prote ...
EPFL2018Detection and benchmarking of somatic mutations in cancer genomes using RNA-seq data
Philipp Bucher, Alexandre Coudray
To detect functional somatic mutations in tumor samples, whole-exome sequencing (WES) is often used for its reliability and relative low cost. RNA-seq, while generally used to measure gene expression, can potentially also be used for identification of soma ...
2018Monobodies as possible next-generation protein therapeutics - a perspective
Over the past two decades, hundreds of new somatic mutations have been identified in tumours, and a few dozen novel cancer therapeutics that selectively target these mutated oncoproteins have entered clinical practice. This development has resulted in clin ...
2017Global human tissue profiling and protein network analysis reveals distinct levels of transcriptional germline-specificity and identifies target genes for male infertility
Mammalian spermatogenesis is a process that involves a complex expression program in both somatic and germ cells present in the male gonad. A number of studies have attempted to define the transcriptome of male meiosis and gametogenesis in rodents and prim ...
Oxford University Press2012